Article

Convergence of specified RUNX2, SALL1, and SAMD9 variants permits normal global immune and endocrine function despite bone marrow hypocellularity and reduced ovarian reserve

2022-02-15

Abstract excerpt

<title>Abstract</title> <p>Background <italic>RUNX2, SALL1</italic> and <italic>SAMD9</italic> are independently assorted genes responsible for multisystem actions where disruption often results in severe developmental or functional impairment. Alteration in any of these ‘master regulators’ is usually diagnosed in early childhood when missed milestones, anatomical dysmorphia, or chronic infection/immune impairme...

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Literature Corpus work: babbe249-da59-5e09-bd72-f9f5727523d5
DOI: 10.21203/rs.3.rs-1358972/v1

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